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Christopher Grunseich

Showing results (61-70 of 76) with videos related to

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Science Translational Medicine|December 23, 2016
Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophyMaria Josè Polanco, Sara Parodi, Diana Piol, et al.
Nature Communications|February 6, 2023
LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and miceRamachandran Prakasam, Angela Bonadiman, Roberta Andreotti, et al.
Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S EnzymesNunziata Maio, Rotem Orbach, Irina Zaharieva, et al.
The Journal of Clinical Investigation|July 1, 2024
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymesNunziata Maio, Rotem Orbach, Irina T Zaharieva, et al.
Science Advances|August 21, 2021
Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activityWooi F Lim, Mitra Forouhan, Thomas C Roberts, et al.
Neurology|November 26, 2024
Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy: Results From a Meta-Analysis of the Global SBMA DatasetSpencer B Huggett, Andrew T N Tebbenkamp, Carlo Rinaldi, et al.
Neurobiology of Disease|May 21, 2024
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegiaSalimata Diarra, Saikat Ghosh, Lassana Cissé, et al.
Eclinicalmedicine|February 6, 2024
Rycal S48168 (ARM210) for <i>RYR1</i>-related myopathies: a phase one, open-label, dose-escalation trialJoshua J Todd, Tokunbor A Lawal, Irene C Chrismer, et al.
JAMA Neurology|March 10, 2015
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic ParaplegiaCarlo Rinaldi, Thomas Schmidt, Alan J Situ, et al.
Acta Neuropathologica|April 3, 2020
Intracellular calcium leak as a therapeutic target for RYR1-related myopathiesAlexander Kushnir, Joshua J Todd, Jessica W Witherspoon, et al.
Pageof 8

Showing results (61-70 of 76) with videos related to

Sort By:
Pageof 8
Science Translational Medicine|December 23, 2016
Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophyMaria Josè Polanco, Sara Parodi, Diana Piol, et al.
Nature Communications|February 6, 2023
LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and miceRamachandran Prakasam, Angela Bonadiman, Roberta Andreotti, et al.
Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S EnzymesNunziata Maio, Rotem Orbach, Irina Zaharieva, et al.
The Journal of Clinical Investigation|July 1, 2024
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymesNunziata Maio, Rotem Orbach, Irina T Zaharieva, et al.
Science Advances|August 21, 2021
Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activityWooi F Lim, Mitra Forouhan, Thomas C Roberts, et al.
Neurology|November 26, 2024
Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy: Results From a Meta-Analysis of the Global SBMA DatasetSpencer B Huggett, Andrew T N Tebbenkamp, Carlo Rinaldi, et al.
Neurobiology of Disease|May 21, 2024
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegiaSalimata Diarra, Saikat Ghosh, Lassana Cissé, et al.
Eclinicalmedicine|February 6, 2024
Rycal S48168 (ARM210) for <i>RYR1</i>-related myopathies: a phase one, open-label, dose-escalation trialJoshua J Todd, Tokunbor A Lawal, Irene C Chrismer, et al.
JAMA Neurology|March 10, 2015
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic ParaplegiaCarlo Rinaldi, Thomas Schmidt, Alan J Situ, et al.
Acta Neuropathologica|April 3, 2020
Intracellular calcium leak as a therapeutic target for RYR1-related myopathiesAlexander Kushnir, Joshua J Todd, Jessica W Witherspoon, et al.
Pageof 8